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Last Updated: 8 August 2024

Waardenburg Syndrome

Waardenburg syndrome is a rare genetic disorder characterised by deafness, pigmentary abnormalities, and deformities of the eyes, hair, and skin. Named after Dutch ophthalmologist Petrus Waardenburg, this condition results from mutations in several genes. Waardenburg syndrome often leads to distinctive facial features and varying degrees of hearing loss.

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